Role of Diffusion Weighted MRI in Maple Syrup Urine Disease: Rare Cause of Neonatal Metabolic Encephalopathy

Authors

  • Diva Shah Assitant Professor, Department of Radiodiagnosis, Pramukhswami Medical College, Shrikrishna Hospital, Gokal Nagar, Karamsad, Anand, Gujrat
  • Apoorv Nirula Resident, Department of Radiodiagnosis, Pramukhswami Medical College, Shrikrishna Hospital, Gokal Nagar, Karamsad, Anand, Gujrat
  • Dwiti Shah Resident, Department of Radiodiagnosis, Pramukhswami Medical College, Shrikrishna Hospital, Gokal Nagar, Karamsad, Anand, Gujrat

DOI:

https://doi.org/10.3126/jnps.v33i3.8365

Keywords:

Maple syrup urine disease, MSUD oedema, Classic form, metabolic encephalopathy

Abstract

The newborn presenting with neurological symptoms such as seizures or lethargy due to inborn error of metabolism is an important problem. Maple syrup urine disease (MSUD) is an inherited genetic disease, caused by a deficiency of the catalytic components of α-ketoaciddehydrogenase complex, which is responsible for the catabolism of branched-chain amino acids. The purpose of this case report is to show diffusion-weighted imaging (DWI) MRI findings of acute phase of classic form of MSUD in a newborn although this imaging findings are rare but very typical, known as “MSUD oedema”.

DOI: http://dx.doi.org/10.3126/jnps.v33i3.8365  

J. Nepal Paediatr. Soc. 2013;33(3):230-233

Downloads

Download data is not yet available.
Abstract
724
PDF
964

Downloads

Published

2013-12-16

How to Cite

Shah, D., Nirula, A., & Shah, D. (2013). Role of Diffusion Weighted MRI in Maple Syrup Urine Disease: Rare Cause of Neonatal Metabolic Encephalopathy. Journal of Nepal Paediatric Society, 33(3), 230–233. https://doi.org/10.3126/jnps.v33i3.8365

Issue

Vol. 33 No. 3 (2013)

Section

Brief Reports/Case Reports/Case Series

License

Authors who publish with this journal agree to the following terms:

Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).